Canonical Allele Identifier: CA16614473

Gene: FBN1

Linked Data

• ClinVar Variation Id: 406309
• ClinVar RCV Id: RCV000470236
• dbSNP Id: rs1060501049
• MyVariant Identifiers: chr15:g.48703410C>T (hg19) ; chr15:g.48411213C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48411213C>T , CM000677.2:g.48411213C>T	GRCh38
NC_000015.9:g.48703410C>T , CM000677.1:g.48703410C>T	GRCh37
NC_000015.8:g.46490702C>T	NCBI36
NG_008805.2:g.239576G>A , LRG_778:g.239576G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.*1201G>A	ENSP00000453958.2:n.*1201G>A
ENST00000674301.2:c.*1906G>A	ENSP00000501333.2:n.*1906G>A
ENST00000682158.1:n.1774G>A
ENST00000682170.1:n.2574G>A
ENST00000682767.1:n.1690G>A
ENST00000316623.10:c.8393G>A MANE Select	ENSP00000325527.5:p.Gly2798Glu
ENST00000674301.1:c.3559G>A	ENSP00000501333.1:n.3559G>A
ENST00000316623.9:c.8393G>A	ENSP00000325527.5:p.Gly2798Glu
ENST00000559133.5:c.3762G>A
ENST00000561429.1:n.648G>A
NM_000138.4:c.8393G>A , LRG_778t1:c.8393G>A	NP_000129.3:p.Gly2798Glu
NM_000138.5:c.8393G>A MANE Select	NP_000129.3:p.Gly2798Glu